PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 Genetic Test
At DNA Labs UAE, we offer the PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 Genetic Test. This test is designed to detect mutations in the PRF1 gene, which is associated with Hemophagocytic lymphohistiocytosis (HLH) type 2.
Test Components and Price
The test is priced at 4400.0 AED. The sample condition required for testing includes blood, extracted DNA, or one drop of blood on an FTA card.
Report Delivery
The test results will be delivered within 3 to 4 weeks.
Method and Test Type
The PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 Genetic Test utilizes NGS (Next-Generation Sequencing) technology. This method allows for the simultaneous analysis of multiple genes and the identification of variations or mutations in these genes. The test falls under the category of Osteology Dermatology Immunology Disorders.
Doctor and Test Department
The test is recommended by dermatologists and is conducted in our Genetics department.
Pre Test Information
Prior to undergoing the PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by PRF1 Gene Hemophagocytic lymphohistiocytosis type 2.
Test Details
Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening condition characterized by an overactive immune response. It is caused by defects in genes involved in the function of natural killer (NK) cells and cytotoxic T lymphocytes (CTLs), leading to uncontrolled activation and proliferation of these immune cells. One of the genes associated with HLH is the PRF1 gene.
The PRF1 gene is responsible for producing a protein called perforin, which is crucial for the function of NK cells and CTLs. Perforin forms pores in the membranes of target cells, allowing toxic substances to enter and destroy them. Mutations in the PRF1 gene can result in reduced or absent perforin production, leading to impaired immune cell function and the development of HLH.
NGS (Next-Generation Sequencing) genetic testing is used to analyze multiple genes simultaneously and identify variations or mutations in these genes. In the context of HLH, NGS genetic testing can detect mutations in the PRF1 gene and other genes associated with the condition. This type of genetic testing is instrumental in the diagnosis and management of HLH, as it allows for early identification of genetic mutations and enables timely interventions and appropriate treatment strategies.
NGS testing also helps determine the risk of familial HLH and identify carriers of the mutated genes. Overall, PRF1 gene NGS genetic testing plays a crucial role in the diagnosis and management of hemophagocytic lymphohistiocytosis type 2. It provides valuable information for clinicians to make informed treatment decisions and offer appropriate genetic counseling to patients and their families.
| Test Name | PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic DNA Test gene PRF1 |
| Test Details |
Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening condition characterized by an overactive immune response. It is caused by defects in genes involved in the function of natural killer (NK) cells and cytotoxic T lymphocytes (CTLs), leading to uncontrolled activation and proliferation of these immune cells. One of the genes associated with HLH is the PRF1 gene. The PRF1 gene provides instructions for producing a protein called perforin. Perforin is crucial for the function of NK cells and CTLs, as it forms pores in the membranes of target cells, allowing toxic substances to enter and destroy them. Mutations in the PRF1 gene can result in reduced or absent perforin production, leading to impaired immune cell function and the development of HLH. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify variations or mutations in these genes. In the context of HLH, NGS genetic testing can be used to detect mutations in the PRF1 gene and other genes associated with the condition. NGS genetic testing for HLH can help in the diagnosis and management of the condition. It allows for early identification of genetic mutations, enabling timely interventions and appropriate treatment strategies. Additionally, NGS testing can help determine the risk of familial HLH and identify carriers of the mutated genes. Overall, PRF1 gene NGS genetic testing plays a crucial role in the diagnosis and management of hemophagocytic lymphohistiocytosis type 2, providing valuable information for clinicians to make informed treatment decisions and offer appropriate genetic counseling to patients and their families. |
